Study Overview:

The Children’s Hospital of Philadelphia (CHOP) is recruiting patients with Friedreich ataxia (FA) who are planning to have a surgical procedure performed. These surgical procedures can include things like scoliosis surgery and tendon transfer surgery. They are also looking for patients with FA who have had biopsies performed in the past at other hospitals.

Study Details:

There is a protocol in place at CHOP that allows them to collect extraneous and leftover samples from past and upcoming biopsies and surgical procedures to further study cellular dysfunction associated with FA. Specifically, they are interested in obtaining extra skin and muscle tissue that would otherwise have been discarded during a planned surgery or that is currently being stored. Therefore, there are no additional tests or procedures involved in this study.

They will also be collecting limited medical history information from patients, including age, sex, GAA repeat length, and age of symptom onset.

Participating Study Locations

Institution Name and LocationInvestigatorStudy Coordinator Contact InformationStatus

Children’s Hospital of Philadelphia
Philadelphia, PA

David Lynch, MD, PhD

Courtney Park
(267) 426-9567

Active, Recruiting